| http://purl.uniprot.org/citations/30026316 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/30026316 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/30026316 | http://www.w3.org/2000/01/rdf-schema#comment | "RIPK1 (receptor-interacting serine/threonine kinase 1) is a master regulator of signaling pathways leading to inflammation and cell death and is of medical interest as a drug target. We report four patients from three unrelated families with complete RIPK1 deficiency caused by rare homozygous mutations. The patients suffered from recurrent infections, early-onset inflammatory bowel disease, and progressive polyarthritis. They had immunodeficiency with lymphopenia and altered production of various cytokines revealed by whole-blood assays. In vitro, RIPK1-deficient cells showed impaired mitogen-activated protein kinase activation and cytokine secretion and were prone to necroptosis. Hematopoietic stem cell transplantation reversed cytokine production defects and resolved clinical symptoms in one patient. Thus, RIPK1 plays a critical role in the human immune system."xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.org/dc/terms/identifier | "doi:10.1126/science.aar2641"xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.org/dc/terms/identifier | "doi:10.1126/science.aar2641"xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.uniprot.org/core/author | "Wu C."xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.uniprot.org/core/author | "Wu C."xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.uniprot.org/core/author | "Wajant H."xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.uniprot.org/core/author | "Wajant H."xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.uniprot.org/core/author | "Plagnol V."xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.uniprot.org/core/author | "Plagnol V."xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.uniprot.org/core/author | "Abinun M."xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.uniprot.org/core/author | "Abinun M."xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.uniprot.org/core/author | "Gaspar M."xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.uniprot.org/core/author | "Gaspar M."xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.uniprot.org/core/author | "Maes M."xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.uniprot.org/core/author | "Maes M."xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.uniprot.org/core/author | "Arkwright P.D."xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.uniprot.org/core/author | "Arkwright P.D."xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.uniprot.org/core/author | "Curtis J."xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.uniprot.org/core/author | "Curtis J."xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.uniprot.org/core/author | "Nejentsev S."xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.uniprot.org/core/author | "Nejentsev S."xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.uniprot.org/core/author | "Eletto D."xsd:string |
| http://purl.uniprot.org/citations/30026316 | http://purl.uniprot.org/core/author | "Eletto D."xsd:string |